| GENE NAME | TYR |
| CHROMOSOME | 11 |
| ENSEMBL ID | ENSG00000077498 |
| ENTREZ ID | 7299 |
| UNIPROT ACCESSION NUMBER | P14679 |
| GO MOLECULAR FUNCTION | protein homodimerization activity; protein binding; identical protein binding; copper ion binding; tyrosinase activity |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-1430728; R-HSA-5662702; hsa01100; R-HSA-71291; hsa01100; hsa04916; hsa00350; hsa04916; hsa00350 |
| 13 combinations linked to TYR | OLI069; OLI217; OLI398; OLI1099; OLI220; OLI073; OLI1096; OLI399; OLI1095; OLI070; OLI072; OLI1098; OLI1097 |
| 8 variants linked to TYR | TYR:c.230G>A, p.Arg77Gln; TYR:c.832C>T, p.Arg278Ter; TYR:c.1205G>A, p.Arg402Gln; TYR:c.346C>T, p.Arg116Ter; TYR:c.1467dup, p.Ala490CysfsTer20; TYR:c.1037-7T>A, ; TYR:c.649C>T, p.Arg217Trp; TYR:c.1255G>A, p.Gly419Arg |
| 3 diseases linked to TYR | Ocular albinism; Ocular albinism with congenital sensorineural deafness; Oculocutaneous albinism |